Disease: Achondrogenesis type 1A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.910 Biomarker disease BEFREE We discovered that the ACG1A skeletal phenotype is solely due to absence of GMAP-210 in chondrocytes. 29180569 2018
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.910 Biomarker disease MGD The similarities between the skeletal and cellular phenotypes in these mice and those in patients with achondrogenesis type 1A, a neonatal lethal form of skeletal dysplasia in humans, suggested that achondrogenesis type 1A may be caused by GMAP-210 deficiency. 20089971 2010
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.910 GermlineCausalMutation disease ORPHANET The similarities between the skeletal and cellular phenotypes in these mice and those in patients with achondrogenesis type 1A, a neonatal lethal form of skeletal dysplasia in humans, suggested that achondrogenesis type 1A may be caused by GMAP-210 deficiency. 20089971 2010
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.910 Biomarker disease GENOMICS_ENGLAND The similarities between the skeletal and cellular phenotypes in these mice and those in patients with achondrogenesis type 1A, a neonatal lethal form of skeletal dysplasia in humans, suggested that achondrogenesis type 1A may be caused by GMAP-210 deficiency. 20089971 2010
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.910 GeneticVariation disease CLINVAR The similarities between the skeletal and cellular phenotypes in these mice and those in patients with achondrogenesis type 1A, a neonatal lethal form of skeletal dysplasia in humans, suggested that achondrogenesis type 1A may be caused by GMAP-210 deficiency. 20089971 2010
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.910 CausalMutation disease CLINVAR
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.910 Biomarker disease GENOMICS_ENGLAND
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		0.910 Biomarker disease CTD_human